CD40基因多态性与急性冠状动脉综合征、高血压和糖尿病的易感相关性

目的探讨CD40-E1SNP（-1C／T）和CD40-FASNP基因多态性与中国汉族人群急性冠状动脉综合征（ACS）的易感相关性。方法采用聚合酶链反应限制性片段长度多态性（PCR-RnP）和DNA测序技术,检测160例经冠状动脉造影确诊的ACS患者和92例冠状动脉造影阴性人群CD40-E1SNP（-1C／T）、CD40-FASNP基因型和等位基因频率,分析两组人群CD40基因型和等位基因频率差异,并用Logistic回归模型分析CD40基因多态性和高血压、糖尿病对ACS的影响。结果CD40-1位点c等位基因频率在ACS组与对照组分别为0．606和0．489,T等位基因频率分别为0．394和0．511,两组差异有统计学意义（P〈0．05）;ACS患者CC基因型频率（0．281）明显高于对照组（0．130）,差异有统计学意义（P〈0．01）;C等位基因显著增加ACS的患病风险（OR：1．608,95％可信区间t1．12—2．32,P：O．011）;调整年龄、性别、体重指数后,Logistic回归分析CD40基因及其与高血压、糖尿病对ACS的危害作用,单独c等位基因型OR值为1．608（95％可信区间：1．12-2．32,P〈0．05）,C等位基因-有高血压OR值为5．71（95％可信区间：1．12-29．08,P〈0．05）,C等位基因-无糖尿病OR值为1．44（95％可信区间：1．12-5．13,P〈0．01）,C等位基因-有糖尿病OR值为2．35（95％可信区间：1.47-4．82,P〈0．01）。未检测到CD40-FASNP基因多态性。结论CD40-1C／T基因多态性与ACS有相关性,C等位基因携带者合并高血压、糖尿病显著增加患ACS的危险性,而汉族人群可能不存在CD40-FASNP基因多态性。

Correlation of CD40 gene polymorphisms with acute coronary syndrome, hypertension and diabetes

OBJECTIVE: To investigate the correlation of CD40-E1SNP (-1C/T) and CD40-E4SNP with acute coronary syndrome (ACS), hypertension and diabetes in Chinese Han population. METHODS: The allele frequencies of CD40-E1SNP (-1C/T) and CD40-E4SNP were assayed by polymerase chain reaction-restriction fragment length polymorphism and DNA sequence technology in 160 definite ACS patients and 92 controls with negatively coronary arteriongraphy. Multivariate logistic regression models were used to analyzed the interaction between the CD40 gene polymorphisms and hypertension and diabetes. RESULTS: CD40-1C allele frequency of the ACS group was 0.606, significantly higher than that of the control group (0.489, P < 0.01), while the T allele frequency of the ACS group was 0.394, significantly lower than that of the control group (0.511, P < 0.01). The frequency of CC genotype was much higher in the ACS group than in the control group (P < 0.01). C allele increased the risk of ACS (OR = 1.608, 95% CI: 1.12 - 2.32, P = 0.011). After adjustment of confounding variables, such as age, sex, and body mass index, the binary logistic analysis showed a significant gene-environment interaction (P < 0.05). The OR value were: 1.608 for C allele (95% CI: 1.12 - 2.32, P < 0.05), 5.71 for C allele-with hypertension (95% CI: 1.12 - 29.08, P < 0.05), 1.44 for C allele-without diabetes (95% CI: 1.12 - 5.13, P < 0.01), and 2.35 for C allele-with diabetes (95% CI: 1.47 - 4.82, P < 0.01). Expression of CD40-E4SNP was not found in these subjects. CONCLUSION: CD40-1C/T polymorphism is associated with ACS in Chinese people. The -1C allele carriers have higher risk of ACS if they get hypertension or diabetes; CD40-E4SNP may not exist in Chinese people.